Preferred Label : Myopathy with tubular aggregates;
ICD-11 definition : Tubular aggregate myopathy is a genetically heterogeneous, rare nosological entity
characterized by tubular aggregates as the main pathological hallmark on muscle biopsy.
Tubular aggregates are regular arrays of tubules derived from the sarcoplasmic reticulum
and can also occasionally be found as an accompanying feature in other hereditary
myopathies or congenital myasthenic syndromes. Pure form is usually sporadic or follows
an autosomal dominant mode of inheritance, and is clinically characterized by myalgias,
cramps and muscle stiffness, with or without weakness with a predominantly proximal
distribution.;
Origin ID : 1488729253;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
- Validated automatic mappings to NTBT
Tubular aggregate myopathy is a genetically heterogeneous, rare nosological entity
characterized by tubular aggregates as the main pathological hallmark on muscle biopsy.
Tubular aggregates are regular arrays of tubules derived from the sarcoplasmic reticulum
and can also occasionally be found as an accompanying feature in other hereditary
myopathies or congenital myasthenic syndromes. Pure form is usually sporadic or follows
an autosomal dominant mode of inheritance, and is clinically characterized by myalgias,
cramps and muscle stiffness, with or without weakness with a predominantly proximal
distribution.
